Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle.
about
Isoforms of human cytochrome-c oxidase. Subunit composition and steady-state kinetic propertiesSubunits VIIa,b,c of human cytochrome c oxidase. Identification of both 'heart-type' and 'liver-type' isoforms of subunit VIIa in human heartMitochondrial myopathy and familial thiamine deficiency.Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder.Mitochondrial changes in platelets are not related to those in skeletal muscle during human septic shock.Biochemical studies in mitochondrial encephalomyopathy.A mitochondrial encephalomyopathy with a partial cytochrome c oxidase deficiency of muscleExercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency.Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemiaLaboratory diagnosis of metabolic myopathies.A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.Reversible mitochondrial myopathy with cytochrome c oxidase deficiency.Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.Organic acidurias: a review. Part 1.Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.Complexity and tissue specificity of the mitochondrial respiratory chain.Myopathology of Adult and Paediatric Mitochondrial Diseases.Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.Cytochrome oxidase deficiency: clinical and biochemical heterogeneity.Mitochondrial myopathies involving the respiratory chain: a biochemical analysis.Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach.The biochemical basis of mitochondrial diseases.Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases.Improvement of endurance of DMD animal model using natural polyphenols.Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency.The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics.Skeletal muscle mitochondrial myopathy as a cause of exercise intolerance in a horse.Cytochrome c oxidase deficiency in muscle with dicarboxylic aciduria and renal tubular acidosis.Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.Clinical and biochemical studies on cytochrome oxidase deficiencies.Immunochemical study in three patients with cytochrome c oxidase deficiency presenting Leigh's encephalomyelopathy.Complicated migraine studied by phosphorus magnetic resonance spectroscopy.Immunohistochemical demonstration of mitochondria in routinely processed tissue using a monoclonal antibody.Demonstration of two isoforms of subunit VIIa of cytochrome c oxidase from human skeletal muscle. Implications for mitochondrial myopathies.β-Turns as structural motifs for the proteolytic processing of seed proteinsMuscle glucose-6-phosphate dehydrogenase deficiency
P2860
Q28115738-9DF328EC-35B9-4D5E-8A5F-BD19CF3D0F3AQ28208606-9B3C02E0-2B9E-426D-A507-351D35EAABCCQ31403503-6AF37352-E3F6-4697-86A2-671C414B53E2Q33492130-20C65CEE-7E32-4054-8802-9FA228E1E3C0Q33553590-2C9CC6C7-92E7-4059-9F86-E38F442B92D3Q33629607-DA09DB95-99D8-4863-85A2-27816061CF2FQ33631123-C86FAFC1-131A-45E1-BB8F-C62A58FDAC37Q34450667-D0282011-B41D-4FF6-A404-9E1503F6184BQ34577359-493E2750-7E6B-494E-A3FA-8E23F632D14AQ34627398-A9508E91-802B-4AC4-B461-40F7A4A916BBQ35196878-8938D8CE-8C1C-4DB7-97B9-C3AB1C2D5F51Q35627773-D76BB6FE-37FD-4ADE-97BA-181A8ACD2A1FQ36719089-AA84F0EE-DFC1-4273-B0ED-0FE887A98DB1Q37254022-9D7512FF-EF56-4305-83C7-456107A0380DQ37739698-77560B75-4462-4FDA-9936-20FA13F7A39DQ39245082-845B6DCF-650F-46FA-893B-548C841EE52EQ39414816-C00DA7B1-EAB5-49BC-88E5-8C1E150E1067Q39506552-30BB33E5-290F-45B4-ABDD-8AF1F18E297CQ39509017-FCC638F2-4424-475E-86E1-EE1CBF5423B4Q39509031-5C33506A-AB57-432E-83CF-E6D733F60F10Q39567226-766321CE-E4C4-4D36-93BC-F7E3C3594273Q39642608-E75135A6-F3EA-4536-B6BB-E1F843FE6A04Q40546537-751222CC-FCE2-4C66-983C-E6696FB85FDAQ41091176-5946CAC8-DD01-4956-937F-1723CABB6F84Q42588888-E1673ABB-6658-49F1-BC99-354929890C63Q43129154-FF6B55BE-F51E-40EA-AF57-8666FE8F1828Q44023731-8F8AC702-4C73-44FF-94FA-1F78ECB6C756Q46426086-D75F2A83-A544-4A3A-A2DF-47D6BBAD11ACQ46573315-FC39D51E-797C-4BDA-A223-E497BC1BD44CQ47122284-29217CE5-5BAC-4E7B-945A-2FB823DD701AQ48162574-E73478BB-280C-44E3-91F1-AB096E75A67EQ48259705-32419A97-8005-4CE3-9628-163A97697CA2Q48882844-DF504831-7DDC-4731-9CBD-209F3C58A699Q49044807-C754D25F-6EBA-472F-A4C0-9DEE1101F892Q49170886-871DCA9C-6D0A-48E2-8571-AAFF4E2A39ABQ57082676-4AE9969A-2D20-418F-84B5-55B851DCC79CQ57085868-4ADA51D1-F635-4B56-8F45-2F3862EE20E4
P2860
Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle.
description
1985 nî lūn-bûn
@nan
1985年の論文
@ja
1985年学术文章
@wuu
1985年学术文章
@zh
1985年学术文章
@zh-cn
1985年学术文章
@zh-hans
1985年学术文章
@zh-my
1985年学术文章
@zh-sg
1985年學術文章
@yue
1985年學術文章
@zh-hant
name
Fatal infantile cytochrome c o ...... y detectable enzyme in muscle.
@en
Fatal infantile cytochrome c o ...... y detectable enzyme in muscle.
@nl
type
label
Fatal infantile cytochrome c o ...... y detectable enzyme in muscle.
@en
Fatal infantile cytochrome c o ...... y detectable enzyme in muscle.
@nl
prefLabel
Fatal infantile cytochrome c o ...... y detectable enzyme in muscle.
@en
Fatal infantile cytochrome c o ...... y detectable enzyme in muscle.
@nl
P2093
P356
P1433
P1476
Fatal infantile cytochrome c o ...... y detectable enzyme in muscle.
@en
P2093
Bresolin N
Nakagawa M
P304
P356
10.1212/WNL.35.6.802
P407
P577
1985-06-01T00:00:00Z